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42 results
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Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
Erro R, Sheerin UM, Bhatia KP. Erro R, et al. Among authors: sheerin um. Mov Disord. 2014 Aug;29(9):1108-16. doi: 10.1002/mds.25933. Epub 2014 Jun 25. Mov Disord. 2014. PMID: 24963779 Review.
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.
Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP. Sheerin UM, et al. Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL.0000000000000254. Epub 2014 Feb 21. Neurology. 2014. PMID: 24562058 Free PMC article.
Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Proukakis C, Shoaee M, Morris J, Brier T, Kara E, Sheerin UM, Charlesworth G, Tolosa E, Houlden H, Wood NW, Schapira AH. Proukakis C, et al. Among authors: sheerin um. Mov Disord. 2014 Jul;29(8):1060-4. doi: 10.1002/mds.25883. Epub 2014 Apr 21. Mov Disord. 2014. PMID: 24752924 Free PMC article.
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.
Kojovic M, Sheerin UM, Rubio-Agusti I, Saha A, Bras J, Gibbons V, Palmer R, Houlden H, Hardy J, Wood NW, Bhatia KP. Kojovic M, et al. Among authors: sheerin um. Mov Disord. 2012 Dec;27(14):1827-9. doi: 10.1002/mds.25199. Mov Disord. 2012. PMID: 23283657 No abstract available.
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP. Stamelou M, et al. Among authors: sheerin um. Mov Disord. 2014 Jun;29(7):928-34. doi: 10.1002/mds.25802. Epub 2014 Jan 17. Mov Disord. 2014. PMID: 24442708 Free PMC article.
Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation.
Abbas MM, Govindappa ST, Sheerin UM, Bhatia KP, Muthane UB. Abbas MM, et al. Among authors: sheerin um. Mov Disord Clin Pract. 2016 Apr 26;4(1):132-135. doi: 10.1002/mdc3.12353. eCollection 2017 Jan-Feb. Mov Disord Clin Pract. 2016. PMID: 30713959 Free PMC article. No abstract available.
Tau acts as an independent genetic risk factor in pathologically proven PD.
Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. Charlesworth G, et al. Among authors: sheerin um. Neurobiol Aging. 2012 Apr;33(4):838.e7-11. doi: 10.1016/j.neurobiolaging.2011.11.001. Epub 2012 Jan 4. Neurobiol Aging. 2012. PMID: 22221882 Free PMC article.
Screening for VPS35 mutations in Parkinson's disease.
Sheerin UM, Charlesworth G, Bras J, Guerreiro R, Bhatia K, Foltynie T, Limousin P, Silveira-Moriyama L, Lees A, Wood N. Sheerin UM, et al. Neurobiol Aging. 2012 Apr;33(4):838.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.032. Epub 2011 Dec 7. Neurobiol Aging. 2012. PMID: 22154191 Free PMC article.
Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.
Sheerin UM, Houlden H, Wood NW. Sheerin UM, et al. Mov Disord Clin Pract. 2014 Apr 10;1(1):3-13. doi: 10.1002/mdc3.12000. eCollection 2014 Apr. Mov Disord Clin Pract. 2014. PMID: 30363913 Free PMC article. Review.
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
Wray S, Self M; NINDS Parkinson's Disease iPSC Consortium; NINDS Huntington's Disease iPSC Consortium; NINDS ALS iPSC Consortium, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J. Wray S, et al. Among authors: sheerin um. PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952635 Free PMC article.
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